ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)

dbSNP: rs45517288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003231113 SCV003929626 pathogenic not provided 2022-11-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 26269718, 21533266, 9829910)
Labcorp Genetics (formerly Invitae), Labcorp RCV003511987 SCV004296664 pathogenic Tuberous sclerosis 2 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1089*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 9829910). ClinVar contains an entry for this variant (Variation ID: 49589). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042850 SCV000066646 not provided Tuberous sclerosis syndrome no assertion provided curation

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